Autism
Gene: WDFY3

WDFY3 (WD repeat and FYVE domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000163625
EnsemblGeneIds (GRCh37): ENSG00000163625
OMIM: 617485, Gene2Phenotype
WDFY3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>10 individuals with heterozygous variants in this gene and mild/moderate intellectual disability now described in the literature. Some evidence for opposing effects on brain size depending on variant location.
Created: 26 Nov 2019, midnight | Last Modified: 26 Nov 2019, midnight

Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly 18, primary, autosomal dominant, MIM#617520

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Nov 2019, midnight
Last Modified: 26 Nov 2019, midnight
Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.63

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 18, primary, autosomal dominant, MIM#617520

OMIM

617485

Clinvar variants

Variants in WDFY3

Penetrance

None

Publications

Panels with this gene